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CC2D2A-related disorder

MedGen UID:
893512
Concept ID:
CN239313
Disease or Syndrome
Synonyms: CC2D2A-related condition; CC2D2A-Related Disorders

Professional guidelines

PubMed

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
J Med Genet 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. PMID: 22241855

Recent clinical studies

Diagnosis

Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L
J Med Genet 2023 Jun;60(6):578-586. Epub 2022 Nov 1 doi: 10.1136/jmg-2022-108754. PMID: 36319078
Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
J Med Genet 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. PMID: 22241855

Prognosis

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
J Med Genet 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. PMID: 22241855

Clinical prediction guides

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
J Med Genet 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. PMID: 22241855

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